Canonical Allele Identifier: CA10589607

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266537
• ClinVar RCV Id: RCV000256878
• dbSNP Id: rs886040281
• MyVariant Identifiers: chr17:g.41209109_41209116del (hg19) ; chr17:g.43057092_43057099del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057093_43057100del , CM000679.2:g.43057093_43057100del	GRCh38
NC_000017.10:g.41209110_41209117del , CM000679.1:g.41209110_41209117del	GRCh37
NC_000017.9:g.38462636_38462643del	NCBI36
NG_005905.2:g.160885_160892del , LRG_292:g.160885_160892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5227_5234del	ENSP00000417241.2:p.Arg1743ProfsTer?
ENST00000470026.6:c.5230_5237del	ENSP00000419274.2:p.Arg1744ProfsTer?
ENST00000473961.6:c.5104_5111del	ENSP00000420201.2:p.Arg1702ProfsTer?
ENST00000476777.6:c.5224_5231del	ENSP00000417554.2:p.Arg1742ProfsTer?
ENST00000477152.6:c.5152_5159del	ENSP00000419988.2:p.Arg1718ProfsTer?
ENST00000478531.6:c.1918_1925del	ENSP00000420412.2:p.Arg640ProfsTer?
ENST00000489037.2:c.5152_5159del	ENSP00000420781.2:p.Arg1718ProfsTer?
ENST00000493919.6:c.1780_1787del	ENSP00000418819.2:p.Arg594ProfsTer?
ENST00000494123.6:c.5230_5237del	ENSP00000419103.2:p.Arg1744ProfsTer?
ENST00000497488.2:c.4342_4349del	ENSP00000418986.2:p.Arg1448ProfsTer?
ENST00000618469.2:c.5230_5237del	ENSP00000478114.2:p.Arg1744ProfsTer?
ENST00000634433.2:c.5107_5114del	ENSP00000489431.2:p.Arg1703ProfsTer?
ENST00000644379.2:c.5296_5303del	ENSP00000496570.2:p.Arg1766ProfsTer?
ENST00000644555.2:c.1780_1787del	ENSP00000494614.2:p.Arg594ProfsTer?
ENST00000652672.2:c.5089_5096del	ENSP00000498906.2:p.Arg1697ProfsTer?
ENST00000484087.6:c.1792_1799del	ENSP00000419481.2:p.Arg598ProfsTer?
ENST00000357654.9:c.5230_5237del MANE Select	ENSP00000350283.3:p.Arg1744ProfsTer?
ENST00000471181.7:c.5293_5300del	ENSP00000418960.2:p.Arg1765ProfsTer?
ENST00000644379.1:c.1617_1624del
ENST00000352993.7:c.1804_1811del	ENSP00000312236.5:p.Arg602ProfsTer?
ENST00000357654.7:c.5230_5237del	ENSP00000350283.3:p.Arg1744ProfsTer?
ENST00000461221.5:c.*5013_*5020del	ENSP00000418548.1:n.*5013_*5020del
ENST00000468300.5:c.1918_1925del	ENSP00000417148.1:p.Arg640ProfsTer?
ENST00000471181.6:c.5293_5300del	ENSP00000418960.2:p.Arg1765ProfsTer?
ENST00000491747.6:c.1918_1925del	ENSP00000420705.2:p.Arg640ProfsTer?
ENST00000493795.5:c.5089_5096del	ENSP00000418775.1:p.Arg1697ProfsTer?
ENST00000586385.5:c.160_167del	ENSP00000465818.1:p.Arg54ProfsTer?
ENST00000591534.5:c.703_710del	ENSP00000467329.1:p.Arg235ProfsTer?
ENST00000591849.5:c.-98-6909_-98-6902del	ENSP00000465347.1:n.-98-6909_-98-6902del
NM_007294.3:c.5230_5237del , LRG_292t1:c.5230_5237del	NP_009225.1:p.Arg1744ProfsTer?
NM_007297.3:c.5089_5096del	NP_009228.2:p.Arg1697ProfsTer?
NM_007298.3:c.1918_1925del	NP_009229.2:p.Arg640ProfsTer?
NM_007299.3:c.1918_1925del	NP_009230.2:p.Arg640ProfsTer?
NM_007300.3:c.5293_5300del	NP_009231.2:p.Arg1765ProfsTer?
NR_027676.1:n.5366_5373del
NM_007294.4:c.5230_5237del MANE Select	NP_009225.1:p.Arg1744ProfsTer?
NM_007297.4:c.5089_5096del	NP_009228.2:p.Arg1697ProfsTer?
NM_007299.4:c.1918_1925del	NP_009230.2:p.Arg640ProfsTer?
NM_007300.4:c.5293_5300del	NP_009231.2:p.Arg1765ProfsTer?
NR_027676.2:n.5407_5414del